Van Lohuizen Syndrome – A Case Report with a Diagnostic Delay of Four Years
DOI:
https://doi.org/10.3889/oamjms.2018.024Keywords:
Cutis marmorata telangiectatica congenita, Van Lohuizen syndrome, vascular-cutaneous disordersAbstract
BACKGROUND: Cutis marmorata telangiectatic congenital or Van Lohuizen syndrome is a rare vascular disorder that may be associated with other congenital malformations. Around 300 cases have been reported so far.
CASE REPORT: We present a 4-year-old girl with Van Lohuizen syndrome of the leg, but without any other malformations.
CONCLUSION: Neonatal lupus erythematosus may resemble congenital vasculopathy, but histopathology and immune-serology are characteristic.Downloads
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References
Van Lohuizen CHJ. Über eine seltene angeborene Hautanomalie (Cutis marmorata telangiectatica congenita). Acta Derm Venereol. 1922; 3:2012-11.
Pehr K, Moroz B. Cutis marmorata telangiectatica congenita: long-term follow-up. Review of the literature, and report of a case in conjunction with congenital hypothyroidism. Pediat Dermatol. 1993; 10:6-11. https://doi.org/10.1111/j.1525-1470.1993.tb00002.x
Rupprecht R, Hundeiker M. Cutis marmorata teleangiectatica congentia. Wichtige Aspekte für die dermatologische Praxis. Hautarzt. 1997; 48:21-5. https://doi.org/10.1007/s001050050541 PMid:9132383
Powell ST, Su WPD. Cutis marmorata telangiectatica congentia: report of nine cases and review of the literature. Cutis. 1984; 34:305-12. PMid:6386356
Happle R. Capillary malformations: a classification using specific names for specific skin disorders. J Eur Acad Dermatol Venereol. 2015; 29:2295-305. https://doi.org/10.1111/jdv.13147 PMid:25864701
Kienast AK, Hoeger PH. Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. Clin Exp Dermatol. 2009; 34:319–23. https://doi.org/10.1111/j.1365-2230.2008.03074.x PMid:19196300
Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012; 158A:269-91. https://doi.org/10.1002/ajmg.a.34402 PMid:22228622
del Boz J, Serrano Mdel M, Gómez E, Vera A. Neonatal lupus erythematosus and cutis marmorata telangiectatica congenita-like lesions. Int J Dermatol. 2009; 48(11):1206-8. https://doi.org/10.1111/j.1365-4632.2009.04212.x PMid:20064177
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